autosomal dominant palmoplantar keratoderma and congenital alopecia
Findings
No curated finding names autosomal dominant palmoplantar keratoderma and congenital alopecia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Definition from the Mondo Disease Ontology (MONDO:0007083), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- 2 of 2 reported patients
- Brittle hairHPOHP:0002299
- 2 of 2 reported patients
- HyperkeratosisHPOHP:0000962
- 2 of 2 reported patients
- Hyperpigmentation of the skinHPOHP:0000953
- 1 of 1 reported patient
- Keratosis pilarisHPOHP:0032152
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- LeukonychiaHPOHP:0001820
- 2 of 2 reported patients
- Nail dysplasiaHPO
Show the remaining 22
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)
- Sparse eyelashesHPOHP:0000653
- Very frequent (80% to 99% of cases)
- Sparse scalp hairHPOHP:0002209
- Very frequent (80% to 99% of cases)
- Digital constriction ringHPOHP:0010491
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GJA1HGNC:4274
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: autosomal dominant palmoplantar keratoderma and congenital alopecia
- Also called
- autosomal dominant palmoplantar hyperkeratosis and congenital alopeciapalmoplantar keratoderma and congenital alopecia type 1palmoplantar keratoderma and congenital alopecia, Stevanovic typepalmoplantar keratoderma with congenital alopeciaPPK-CA, Stevanovic type